| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (51.2%) |
24838992 |
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3. Al Kaissi A, Ganger R, Rotzer KM, Klaushofer K, Grill F. Am J Med Genet A. 2014;164A(9):2338-43. |
| Full cheeks Split hand | ||
| SON | ||
| Child Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 17 Ectromelia Family Homo sapiens Limb Deformities, Congenital Male Oligonucleotide Array Sequence Analysis Thrombocytopenia | ||
| 2 (45.9%) |
12400066 |
Fibular aplasia with ectrodactyly. Evans JA, Reed MH, Greenberg CR. Am J Med Genet. 2002;113(1):52-8. |
| Fibular aplasia | ||
| Adult Apgar Score Congenital Foot Deformity Females Homo sapiens Infant, Newborn Male | ||
| 3 (34.6%) |
4007857 |
Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Majewski F, Kuster W, ter Haar B, Goecke T. Hum Genet. 1985;70(2):136-47. |
| Split hand | ||
| Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Foot Genes, Dominant Hand Homo sapiens Infant Infant, Newborn Male Syndrome | ||
| 4 (31.0%) |
28496997 |
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G. J Pediatr Genet. 2017;6(2):98-102. |
| Syndactyly | ||
| BHLHA9 | ||
| 4 (31.0%) |
24874887 |
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation. Baquero-Montoya C, Gil-Rodriguez MC, Hernandez-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martinez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gomez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pie J. Eur J Med Genet. 2014;57(9):503-9. |
| Intellectual disability Oligodactyly | ||
| BHLHA9 HDAC8 NIPBL RAD21 SMC1A SMC3 | ||
| c|SUB|A|6647|G p|SUB|Y|2216|C rs587784020 | ||
| Alleles Amino Acid Sequence Cell Cycle Proteins Cornelia De Lange Syndrome Exome Gene Order High-Throughput Nucleotide Sequencing Homo sapiens Infant Male Models, Molecular Molecular Sequence Data Mutation Phenotype Protein Conformation Proteins Sequence Alignment | ||
| 6 (4.0%) |
31200655 |
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. Paththinige CS, Sirisena ND, Escande F, Manouvrier S, Petit F, Dissanayake VHW. BMC Med Genet. 2019;20(1):108. |
| Neurodevelopmental abnormality | ||
| Basic Helix-Loop-Helix Transcription Factors Chromosomal Duplication Chromosomes, Human, Pair 17 Congenital Foot Deformity Congenital Hand Deformities Ectromelia Females Gene Dosage Gene Duplication Gene Rearrangement Genetic Association Studies Genetic Loci Genetic Predisposition to Disease Homo sapiens Infant, Newborn Limb Deformities, Congenital |
Total: 18
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001171 | Split hand | Very frequent (99-80%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0005772 | Aplasia/Hypoplasia of the tibia | Frequent (79-30%) |
| HP:0100257 | Ectrodactyly | Frequent (79-30%) |
| HP:0000396 | Overfolded helix | Occasional (29-5%) |
| HP:0001156 | Brachydactyly | Occasional (29-5%) |
| HP:0001162 | Postaxial hand polydactyly | Occasional (29-5%) |
| HP:0001177 | Preaxial hand polydactyly | Occasional (29-5%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0002823 | Abnormality of femur morphology | Occasional (29-5%) |
| HP:0002980 | Femoral bowing | Occasional (29-5%) |
| HP:0002991 | Abnormality of fibula morphology | Occasional (29-5%) |
| HP:0003038 | Fibular hypoplasia | Occasional (29-5%) |
| HP:0003097 | Short femur | Occasional (29-5%) |
| HP:0006101 | Finger syndactyly | Occasional (29-5%) |
| HP:0006443 | Patellar aplasia | Occasional (29-5%) |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | Occasional (29-5%) |
| HP:0009756 | Popliteal pterygium | Occasional (29-5%) |
Total: 3
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001159 | Syndactyly | 1 |
| HP:0001171 | Split hand | 1 |
| HP:0001873 | Thrombocytopenia | 1 |